Genetic analysis of the dystroglycan gene in bronchopulmonary dysplasia affected premature newborns

Dystroglycan (DG) is an extracellular matrix receptor that serves as an adhesion molecule and is essential for the stability of the plasma membrane. DG is highly expressed within the epithelial cell layer where it supports morphogenesis, adhesion and wound repair. Mechanically ventilated newborns of...

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Bibliographic Details
Published in:Clinica chimica acta 2007-03, Vol.378 (1), p.164-167
Main Authors: Concolino, Paola, Capoluongo, Ettore, Santonocito, Concetta, Vento, Giovanni, Tana, Milena, Romagnoli, Costantino, Zuppi, Cecilia, Ameglio, Franco, Brancaccio, Andrea, Sciandra, Francesca
Format: Article
Language:English
Subjects:
Bronchopulmonary dysplasia
Bronchopulmonary Dysplasia - etiology
Bronchopulmonary Dysplasia - genetics
DNA sequencing
Dystroglycan
Dystroglycans - genetics
Dystroglycans - physiology
Extracellular matrix
Female
Humans
Infant, Newborn
Infant, Premature
Male
Polymorphism, Single Nucleotide
Single nucleotide polymorphisms
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Summary:Dystroglycan (DG) is an extracellular matrix receptor that serves as an adhesion molecule and is essential for the stability of the plasma membrane. DG is highly expressed within the epithelial cell layer where it supports morphogenesis, adhesion and wound repair. Mechanically ventilated newborns often develop bronchopulmonary dysplasia (BPD), characterized by a progressive impairment of wound repair capacity in their lung. To verify if the susceptibility to BPD might be linked to genetic abnormalities in the DG gene (DAG1), we searched for possible mutations in 33 premature newborns with gestational age < 34 weeks with risk of developing BPD. DAG1 genotype was determined in 11 premature newborns with BPD as compared to 22 premature infants without lung complications. Eight polymorphisms were found, four of them being new DAG1 single nucleotide polymorphisms (SNPs). Only one significant association was found with BPD positive infants: the N494H homozygous genotype ( p = 0.033). The same polymorphism was found significantly associated with BPD when allelic frequencies were considered ( p = 0.0015). Our data enrich the list of DAG1 SNPs and could be useful to trigger further genetic studies about the involvement of DG in human diseases.
ISSN:0009-8981
1873-3492
DOI:10.1016/j.cca.2006.11.016